rs118204423

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	3	susceptibility to malignant hyperthermia
(G;G)	0	common in clinvar

Make rs118204423(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38457539

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118204423
dbSNP (classic)	rs118204423
ClinGen	rs118204423
ebi	rs118204423
HLI	rs118204423
Exac	rs118204423
Gnomad	rs118204423
Varsome	rs118204423
LitVar	rs118204423
Map	rs118204423
PheGenI	rs118204423
Biobank	rs118204423
1000 genomes	rs118204423
hgdp	rs118204423
ensembl	rs118204423
geneview	rs118204423
scholar	rs118204423
google	rs118204423
pharmgkb	rs118204423
gwascentral	rs118204423
openSNP	rs118204423
23andMe	rs118204423
SNPshot	rs118204423
SNPdbe	rs118204423
MSV3d	rs118204423
GWAS Ctlg	rs118204423

Max Magnitude

3

ClinVar
Risk	rs118204423(C;C)
Alt	rs118204423(C;C)
Reference	Rs118204423(G;G)
Significance	Probable-Pathogenic
Disease	Malignant hyperthermia
Variation	info
Gene	RYR1
CLNDBN	Malignant hyperthermia
Reversed	0
HGVS	NC_000019.9:g.38948179G>C
CLNSRC
CLNACC